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heterozygous allele and identify the insertion of the three bases. In the mutation
report, it explicitly stated that an insertion of TCT occurred in position 2029-2030,
causing an in-frame mutation.
6.1.3 Homozygous Insertion/Deletion Detection
Homozygous insertion or deletion occurs when the same bases are inserted or deleted
from both the alleles of the DNA at the same location. The mutation is not noticeable on
the electropherogram unless the sequence is aligned with its corresponding reference
sequence (Wang, 2006). The test sequence that will be used for the assessment for
homozygous mutation is a self-created sequence with three deletions based on the LPL
Exon 5 reference sequence, as shown in Figure 32.
Figure 32. Three regions in the reference are deleted to create the new query sequence.
This sequence will be imported into the softwares to examine the efficacy of the
software to detect the three major deletions. The expected result should contain 3
gapped regions at the position where the deletion was made to occur, as shown in
Figure 33.
Figure 33. The expected alignment result.
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